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- source_evidence_literature type ECO_0000212 NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_provenance.
- NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_assertion description "[The patient's findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_provenance.
- NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_assertion evidence source_evidence_literature NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_provenance.
- NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_assertion SIO_000772 22350371 NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_provenance.
- NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_assertion wasDerivedFrom befree-2016 NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_provenance.
- NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_assertion wasGeneratedBy ECO_0000203 NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_provenance.
- befree-2016 importedOn "2016-02-19" NP962124.RAZl4UcZmhbUEQsrbo1f5S7X0GxXp9_mQpAysvpyJw7tU130_provenance.